Cultures of skin fibroblasts may be helpful in diagnosing many of the lysosomal storage disorders such as the sphingolipidoses or mucopolysaccharidoses. In addition, numerous assays including those for genetic disorders of collagen, DNA repair, fatty acid oxidation, and pyruvate metabolism can be diagnosed using fibroblasts.

Cells from skin biopsies can be cultured at Mayo Clinic and sent to laboratories performing these specialized tests. Cells are frozen for potential future studies on cultured cells or DNA diagnostic procedures.

In the rare event that the biopsy fails to result in fibroblastic outgrowth, the client will be informed as soon as possible.

Mycoplasma screening will be performed on all successfully grown fibroblast cultures. If Mycoplasma is detected, all pending fibroblast clinical testing will be cancelled and the samples will be discarded.

Both laboratory and clinical contacts are available to help with test selection